NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)
|
rs754043007
|
0.00001
|
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)
|
rs1783602877
|
0.00001
|
NM_006494.4(ERF):c.247C>T (p.Arg83Trp)
|
rs766762597
|
0.00001
|
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
|
rs757173567
|
0.00001
|
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)
|
rs1415420832
|
0.00001
|
NC_000001.11:g.153812287_153823987del
|
|
|
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)
|
rs2043341481
|
|
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)
|
rs2101996488
|
|
NM_000814.6(GABRB3):c.630G>C (p.Gln210His)
|
rs1890744574
|
|
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)
|
rs2076994968
|
|
NM_001005273.3(CHD3):c.3514C>T (p.Arg1172Trp)
|
rs867862540
|
|
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)
|
rs1567861501
|
|
NM_001007228.2(SPOP):c.216C>A (p.Asn72Lys)
|
|
|
NM_001029896.2(WDR45):c.827+2dup
|
rs1602537729
|
|
NM_001031710.3(KLHL7):c.619-349A>G
|
|
|
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG
|
rs1588339504
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)
|
rs2063451959
|
|
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile)
|
rs2147245804
|
|
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His)
|
rs2105255398
|
|
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)
|
rs1057520844
|
|
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys)
|
rs2047177327
|
|
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
|
|
|
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del)
|
rs1599375711
|
|
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del)
|
rs863223635
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
|
|
|
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs)
|
rs2074096700
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
|
|
|
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)
|
rs1596476657
|
|
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
|
|
|
NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
|
|
|
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)
|
|
|
NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)
|
|
|
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
|
|
|
NM_001190737.2(NFIB):c.142C>T (p.Arg48Ter)
|
rs2132704082
|
|
NM_001197104.2(KMT2A):c.10835+1G>A
|
|
|
NM_001219.5(CALU):c.700C>T (p.Arg234Ter)
|
|
|
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro)
|
rs2055064647
|
|
NM_001265.6(CDX2):c.940T>C (p.Ter314Arg)
|
rs1593181774
|
|
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
|
|
|
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
|
|
|
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro)
|
rs1948336129
|
|
NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer)
|
rs1238870745
|
|
NM_001282116.2(RFX3):c.1473del (p.Phe492fs)
|
|
|
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)
|
rs867543866
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu)
|
rs2051764612
|
|
NM_001320.7(CSNK2B):c.72+1G>T
|
|
|
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro)
|
rs1592392873
|
|
NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs)
|
rs2138750383
|
|
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys)
|
rs1555225835
|
|
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter)
|
rs1057520149
|
|
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)
|
rs1085307999
|
|
NM_001347721.2(DYRK1A):c.638-6T>C
|
rs2148612226
|
|
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)
|
rs1569380375
|
|
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
|
|
|
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)
|
rs2032214426
|
|
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His)
|
rs1576028676
|
|
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg)
|
rs2036511353
|
|
NM_001365999.1(SZT2):c.153+1G>A
|
rs1649902998
|
|
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)
|
rs1794584714
|
|
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys)
|
rs1791432323
|
|
NM_001376.5(DYNC1H1):c.4396-1G>C
|
|
|
NM_001378183.1(PIEZO2):c.382G>A (p.Gly128Arg)
|
|
|
NM_001378183.1(PIEZO2):c.3923+1G>T
|
|
|
NM_001379291.1(BRD4):c.2728dup (p.Gln910fs)
|
|
|
NM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs)
|
|
|
NM_001379403.1(WDR26):c.823-10A>G
|
rs1674395504
|
|
NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter)
|
|
|
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
|
|
|
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
|
|
|
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
|
|
|
NM_002069.6(GNAI1):c.68_70del (p.Leu23del)
|
rs1787388036
|
|
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
|
|
|
NM_002608.4(PDGFB):c.-318C>T
|
|
|
NM_002608.4(PDGFB):c.-373C>G
|
|
|
NM_003036.4(SKI):c.91T>G (p.Ser31Ala)
|
rs1569656981
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly)
|
rs1249553271
|
|
NM_003128.3(SPTBN1):c.3909C>G (p.Tyr1303Ter)
|
rs748501800
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003482.4(KMT2D):c.10741-23_10741-2del
|
|
|
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)
|
rs1057524031
|
|
NM_003491.4(NAA10):c.248G>A (p.Arg83His)
|
rs1603290366
|
|
NM_003590.5(CUL3):c.827_828del (p.Ile276fs)
|
rs1692821396
|
|
NM_003797.5(EED):c.767T>C (p.Met256Thr)
|
|
|
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe)
|
rs1602183890
|
|
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln)
|
rs1556894502
|
|
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)
|
rs2148721833
|
|
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys)
|
rs2148612232
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004985.5(KRAS):c.202_204del (p.Arg68del)
|
rs1951405809
|
|
NM_005159.5(ACTC1):c.275_277del (p.Phe92del)
|
rs730880388
|
|
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
|
|
|
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
|
|
|
NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)
|
|
|
NM_005560.6(LAMA5):c.5071G>T (p.Glu1691Ter)
|
|
|
NM_005618.4(DLL1):c.1574dup (p.Ala528fs)
|
rs2114958269
|
|
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
|
rs1557045267
|
|
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
|
|
|
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
|
|
|
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr)
|
rs1595127294
|
|
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)
|
rs1555625363
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006186.4(NR4A2):c.1405del (p.Val469fs)
|
|
|
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
|
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
|
|
|
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
|
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006852.6(TLK2):c.1286+5G>A
|
|
|
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
|
|
|
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)
|
rs1591833159
|
|
NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val)
|
|
|
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln)
|
rs1588735834
|
|
NM_007347.5(AP4E1):c.150+593C>G
|
|
|
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)
|
rs1553154062
|
|
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)
|
rs1645264815
|
|
NM_012330.4(KAT6B):c.5041G>A (p.Glu1681Lys)
|
rs1564632292
|
|
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
|
|
|
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
|
|
|
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
|
|
|
NM_014989.7(RIMS1):c.1679-20550G>A
|
|
|
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
|
|
|
NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)
|
|
|
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
|
|
|
NM_015151.4(DIP2A):c.1429+2T>G
|
|
|
NM_015335.5(MED13L):c.2345-3C>G
|
rs1592939069
|
|
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
|
rs1789934246
|
|
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
|
|
|
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
|
|
|
NM_016035.5(COQ4):c.230C>T (p.Thr77Ile)
|
|
|
NM_016284.5(CNOT1):c.1004_1005dup (p.Trp336fs)
|
rs2151976617
|
|
NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs)
|
rs2151901930
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro)
|
rs1389877870
|
|
NM_016604.4(KDM3B):c.3047-1G>A
|
|
|
NM_017934.7(PHIP):c.3317G>A (p.Cys1106Tyr)
|
rs2127701393
|
|
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
|
|
|
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)
|
rs762276611
|
|
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
|
|
|
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp)
|
rs1603060007
|
|
NM_019066.5(MAGEL2):c.224del (p.Pro75fs)
|
rs2140719261
|
|
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp)
|
rs1776322078
|
|
NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)
|
|
|
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)
|
rs1590017652
|
|
NM_021120.4(DLG3):c.1819+1del
|
|
|
NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)
|
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
|
|
|
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
|
|
|
NM_031466.8(TRAPPC9):c.-68C>T
|
|
|
NM_032634.4(PIGO):c.2825A>C (p.Asn942Thr)
|
rs1829367042
|
|
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
|
|
|
NM_057175.5(NAA15):c.231dup (p.Lys78fs)
|
rs757423402
|
|
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs)
|
rs1816304706
|
|
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp)
|
rs2077275624
|
|
NM_133433.4(NIPBL):c.-457_-456delinsAT
|
rs2149510283
|
|
NM_133433.4(NIPBL):c.-467C>T
|
rs1251456909
|
|
NM_133433.4(NIPBL):c.5862+3487C>T
|
rs2149710327
|
|
NM_133433.4(NIPBL):c.869-640G>C
|
rs2149626924
|
|
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del)
|
rs2048401628
|
|
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter)
|
rs750080794
|
|
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
|
|
|
NM_171998.4(RAB39B):c.559del (p.Glu187fs)
|
rs2124126312
|
|
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)
|
rs1034583315
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_182931.3(KMT2E):c.3476T>C (p.Leu1159Pro)
|
|
|
NM_197968.4(ZMYM2):c.1943C>G (p.Ser648Ter)
|
|
|
NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs)
|
rs2140727029
|
|
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)
|
rs2061701575
|
|
NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys)
|
rs1698436913
|
|
NM_207037.2(TCF12):c.579+2T>C
|
rs2151744236
|
|